| Disease |
Synonyms |
Description |
Articles |
Phenotypes |
|
camptodactyly-arthropathy-coxa vara-pericarditis syndrome
|
Jacobs syndrome; arthropathy-camptodactyly syndrom..
[+]
Jacobs syndrome; arthropathy-camptodactyly syndrome; CACP; CACP syndrome; camptodactyly-arthropathy-pericarditis syndrome; CAP syndrome; congenital familial hypertrophic synovitis; familial fibrosing serositis; PAC syndrome; pericarditis-arthropathy-camptodactyly syndrome
[-]
|
A syndrome that is characterized by congenital or .. [+]A syndrome that is characterized by congenital or early-onset camptodactyly, noninflammatory arthropathy with synovial hyperplasia and in some patients progressive coxa vara deformity, and/or noninflammatory pericardial or pleural effusion that has_material_basis_in autosomal recessive inheritance of homozygous mutation in the proteoglycan 4 gene (PRG4) on chromosome 1q31.
[-]
|
|
|
|
cataract 46 juvenile-onset
|
juvenilae cataract Hutterite type; CTRCT46
|
A cataract that has_material_basis_in homozygous m.. [+]A cataract that has_material_basis_in homozygous mutation in the LEMD2 gene on chromosome 6p21.
[-]
|
|
|
|
Stromme syndrome
|
jejunal atresia with microcephaly and ocular anoma..
[+]
jejunal atresia with microcephaly and ocular anomalies; apple peel syndrome with microcephaly and ocular anomalies; CILD31; lethal fetal brain malformation-duodenal atresia-bilateral renal hypoplasia syndrome; primary ciliary dyskinesia 31
[-]
|
A primary ciliary dyskinesia that is characterized.. [+]A primary ciliary dyskinesia that is characterized by autosomal recessive inheritance and ciliopathy with some type of intestinal atresia, variable ocular abnormalities, microcephaly, and has_material_basis_in compound heterozygous mutation in the CENPF gene on chromosome 1q41.
[-]
|
|
|
|
neuronal ceroid lipofuscinosis 3
|
juvenile neuronal ceroid lipofuscinosis; CLN3; Bat..
[+]
juvenile neuronal ceroid lipofuscinosis; CLN3; Batten disease
[-]
|
A neuronal ceroid lipofuscinosis that is character.. [+]A neuronal ceroid lipofuscinosis that is characterized by juvenile-onset of progressive dementia, seizures, and progressive visual failure and an ultrastructural pattern of lipopigment with a 'fingerprint' profile and has_material_basis_in homozygous or compound heterozygous mutation in the CLN3 gene on chromosome 16p11.
[-]
|
|
|
|
hemochromatosis type 2
|
juvenile hemochromatosis; JHH; HFE2
|
A hemochromatosis characterized by autosomal reces.. [+]A hemochromatosis characterized by autosomal recessive inheritance of early onset of severe iron loading with symptoms including; hypogonadotropic hypogonadism, cardiomyopathy, arthropathy, and liver fibrosis or cirrhosis.
[-]
|
|
|
|
nephronophthisis 1
|
juvenile nephronophthisis 1; NPH1; NPHP1
|
A nephronophthisis that has_material_basis_in homo.. [+]A nephronophthisis that has_material_basis_in homozygous or compound heterozygous mutation in or deletion of the NPHP1 gene on chromosome 2q13.
[-]
|
|
|
|
nephronophthisis 4
|
juvenile nephronophthisis 4; NPHP4
|
A nephronophthisis that has_material_basis_in muta.. [+]A nephronophthisis that has_material_basis_in mutation in the NPHP4 gene on chromosome 1p36.31.
[-]
|
|
|
|
linear nevus sebaceous syndrome
|
Jadassohn nevus phakomatosis; JNP; nevus sebaceus ..
[+]
JNP; Jadassohn nevus phakomatosis; nevus sebaceus of Jadassohn; nevus sebaceus syndrome; organoid nevus phakomatosis; organoid nevus syndrome; Schimmelpenning Feuerstein Mims syndrome; Schimmelpenning syndrome; SFM syndrome; Solomon syndrome
[-]
|
A syndrome characterized by sebaceous nevi typical.. [+]A syndrome characterized by sebaceous nevi typically on the face and associated with variable ipsilateral abnormalities of the central nervous system, ocular anomalies, and skeletal defects that has_material_basis_in somatic mosaic mutations in the NRAS, HRAS, or KRAS genes on chromosomes 1p13.2, 11p15.5, or 12p12.1, respectively.
[-]
|
|
|
|
spondylometaphyseal dysplasia Kozlowski type
|
Jequier-Kozlowski syndrome; Jequier Kozlowski skel..
[+]
Jequier-Kozlowski syndrome; Jequier Kozlowski skeletal dysplasia; dysmorphism arthrogryposis skeletal maturation advanced; skeletal dysplasia Jequier-Kozlowski type; SMD Kozlowski type
[-]
|
A spondylometaphyseal dysplasia characterized by v.. [+]A spondylometaphyseal dysplasia characterized by vetebral platyspondyly and overfaced pedicles, scoliosis, and mild metaphyseal abnormalities in the pelvis that has_material_basis_in heterozygous mutation in the TRPV4 gene on chromosome 12q24.11.
[-]
|
|
|
